Broad spectrum of dystonia associated with a novel thanatosis-associated protein domain-containing apoptosis-associated protein 1 mutation in a Japanese family with dystonia 6, torsion.
Identifieur interne : 000E64 ( Main/Exploration ); précédent : 000E63; suivant : 000E65Broad spectrum of dystonia associated with a novel thanatosis-associated protein domain-containing apoptosis-associated protein 1 mutation in a Japanese family with dystonia 6, torsion.
Auteurs : Ryosuke Miyamoto ; Etsuro Ohta ; Toshitaka Kawarai ; Hidetaka Koizumi ; Wataru Sako ; Yuishin Izumi ; Fumiya Obata ; Ryuji KajiSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- Adult, Apoptosis Regulatory Proteins (genetics), Asian Continental Ancestry Group (genetics), DNA Mutational Analysis, DNA-Binding Proteins (genetics), Deep Brain Stimulation (methods), Dystonia Musculorum Deformans (genetics), Dystonia Musculorum Deformans (therapy), Family Health, Female, Globus Pallidus (physiology), Humans, Male, Middle Aged, Mutation (genetics), Nuclear Proteins (genetics).
- MESH :
- chemical , genetics : Apoptosis Regulatory Proteins, DNA-Binding Proteins, Nuclear Proteins.
- genetics : Asian Continental Ancestry Group, Dystonia Musculorum Deformans, Mutation.
- methods : Deep Brain Stimulation.
- physiology : Globus Pallidus.
- therapy : Dystonia Musculorum Deformans.
- Adult, DNA Mutational Analysis, Family Health, Female, Humans, Male, Middle Aged.
DOI: 10.1002/mds.25106
PubMed: 22821615
Affiliations:
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Le document en format XML
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sortKey="Izumi, Yuishin" sort="Izumi, Yuishin" uniqKey="Izumi Y" first="Yuishin" last="Izumi">Yuishin Izumi</name></author><author><name sortKey="Obata, Fumiya" sort="Obata, Fumiya" uniqKey="Obata F" first="Fumiya" last="Obata">Fumiya Obata</name></author><author><name sortKey="Kaji, Ryuji" sort="Kaji, Ryuji" uniqKey="Kaji R" first="Ryuji" last="Kaji">Ryuji Kaji</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2012">2012</date><idno type="doi">10.1002/mds.25106</idno><idno type="RBID">pubmed:22821615</idno><idno type="pmid">22821615</idno><idno type="wicri:Area/PubMed/Corpus">000C94</idno><idno type="wicri:Area/PubMed/Curation">000C94</idno><idno type="wicri:Area/PubMed/Checkpoint">000F15</idno><idno type="wicri:Area/Ncbi/Merge">003752</idno><idno type="wicri:Area/Ncbi/Curation">003752</idno><idno type="wicri:Area/Ncbi/Checkpoint">003752</idno><idno type="wicri:Area/Main/Merge">000F06</idno><idno 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Wataru" uniqKey="Sako W" first="Wataru" last="Sako">Wataru Sako</name></author><author><name sortKey="Izumi, Yuishin" sort="Izumi, Yuishin" uniqKey="Izumi Y" first="Yuishin" last="Izumi">Yuishin Izumi</name></author><author><name sortKey="Obata, Fumiya" sort="Obata, Fumiya" uniqKey="Obata F" first="Fumiya" last="Obata">Fumiya Obata</name></author><author><name sortKey="Kaji, Ryuji" sort="Kaji, Ryuji" uniqKey="Kaji R" first="Ryuji" last="Kaji">Ryuji Kaji</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Apoptosis Regulatory Proteins (genetics)</term><term>Asian Continental Ancestry Group (genetics)</term><term>DNA Mutational Analysis</term><term>DNA-Binding Proteins (genetics)</term><term>Deep Brain Stimulation (methods)</term><term>Dystonia Musculorum Deformans (genetics)</term><term>Dystonia Musculorum Deformans (therapy)</term><term>Family Health</term><term>Female</term><term>Globus Pallidus (physiology)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Nuclear Proteins (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Apoptosis Regulatory Proteins</term><term>DNA-Binding Proteins</term><term>Nuclear Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Asian Continental Ancestry Group</term><term>Dystonia Musculorum Deformans</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Deep Brain Stimulation</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Globus Pallidus</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Dystonia Musculorum Deformans</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>DNA Mutational Analysis</term><term>Family Health</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader></TEI><affiliations><list></list><tree><noCountry><name sortKey="Izumi, Yuishin" sort="Izumi, Yuishin" uniqKey="Izumi Y" first="Yuishin" last="Izumi">Yuishin Izumi</name><name sortKey="Kaji, Ryuji" sort="Kaji, Ryuji" uniqKey="Kaji R" first="Ryuji" last="Kaji">Ryuji Kaji</name><name sortKey="Kawarai, Toshitaka" sort="Kawarai, Toshitaka" uniqKey="Kawarai T" first="Toshitaka" last="Kawarai">Toshitaka Kawarai</name><name sortKey="Koizumi, Hidetaka" sort="Koizumi, Hidetaka" uniqKey="Koizumi H" first="Hidetaka" last="Koizumi">Hidetaka Koizumi</name><name sortKey="Miyamoto, Ryosuke" sort="Miyamoto, Ryosuke" uniqKey="Miyamoto R" first="Ryosuke" last="Miyamoto">Ryosuke Miyamoto</name><name sortKey="Obata, Fumiya" sort="Obata, Fumiya" uniqKey="Obata F" first="Fumiya" last="Obata">Fumiya Obata</name><name sortKey="Ohta, Etsuro" sort="Ohta, Etsuro" uniqKey="Ohta E" first="Etsuro" last="Ohta">Etsuro Ohta</name><name sortKey="Sako, Wataru" sort="Sako, Wataru" uniqKey="Sako W" first="Wataru" last="Sako">Wataru Sako</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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